I'm Aware That I'm Rare: the phaware® podcast

A new podcast series devoted to raising global pulmonary hypertension awareness with dynamic stories from PH patients, caregivers and medical professionals from around the world. New Episodes every Monday & Thursday!

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Patricia Weltin is the founder of The Rare Disease United
Foundation (www.rarediseaseunited.org),
a non-disease speciﬁc, community-based organization, working at a
state-level on legislation that has a direct impact on people
living with a rare disease, providing support locally, and
establishing relationships at local hospitals and medical schools.
RDUF has also created groundbreaking programs like their Beyond the
Diagnosis Art Exhibit, which travels around the country to medical
schools and hospitals.

I'm Patricia Weltin and I'm from Rhode Island and I started the
Rare Disease United Foundation. We first started in Rhode Island
and now we work globally.

Both of my daughters have a rare disease, or rarely diagnosed
disease as we're calling it now. About five years ago I started to
work by state. I just wanted to do one event on Rare Disease Day,
and the idea was to instead of doing a Rare Disease Day event by
disease, we would do it by geography and location, and it didn't
matter to me what other people's disease was. It mattered what the
journey was.

So the very first event we had was on Rare Disease Day. We had a
blizzard, but we still had 150 people drive out and it was just a
great event. There was a lot of stuff for the kids to do. It was a
family event and I kind of put it on the back burner after that.
About a month after that happened, we had a call from U.S. Senator
Sheldon Whitehouse asking us to work on Federal Legislation for The
Expert Act which allows the FDA to bring in rare disease
specialists and experts and patient advocates when they're
reviewing treatments.

Then I started thinking, "Wow. This is a really good idea
working by state. I should just do this in every state," so we
started working on issues by state. We created legislation for a
Rare Disease Advisory Counsel that has been filed in several
states. That's kind of taken on a life of its own and passed… I
think three or four of them. So the idea of working by state became
important and it's a way to get things done.

We focused on state issues and in as many states as we can. We
have facebook groups by state because if you're in this space and
you have a kid with a rare disease you know that there's a lot of
isolation, but you don't have to stick with the people in your
disease. We all understand. We all get it because it's such an
unusual journey. People don't expect to wait years for a diagnosis.
They just don't expect there's no treatments when their child gets
sick. So we're all on the same journey. It's a shared journey that
we have come to find is useful to breakaway from that
disease-specific mindset.

Most of our programs at Rare Disease United Foundation are
focused on things like reducing diagnosis time. We do work on
legislation, but reducing diagnosis time, awareness, and education,
are really, really important to us.

The idea to do an art exhibit came from a young girl who
approached me and said, "Can I paint somebody with a rare disease
for a school project," and after that, I thought, "Wow. I wonder if
we can put out a call for art here in Rhode Island and we can get
an exhibit and maybe the exhibit can travel to medical schools?" So
I did put out a call for art and we had about 17 people respond, so
the first exhibit had 17 portraits, and it was at Brown University
Medical School in Rhode Island, and a few months later we ended up
going to Harvard Medical, and by then we had 35 portraits and the
exhibit started to kind of just take off.

Right after Harvard, we were approached by CBS Sunday Morning
and they wanted to do a piece on the exhibit and when they started
working on it, we'd only been to two venues and now two years
later, this Rare Disease Day, which is coming up, we will be at
seven venues. We're going to be at the NIH, which we were last
year. We'll be at the Broad Institute, which all of these things,
like at the Broad Institute, there will be a symposium surrounding
rare diseases. All of these things where the exhibit goes
generally, there's some kind of educational program to go with it,
which is more than we ever hoped for for this exhibit. We just
hoped to spark some interest from students, but it has become so
much more than that. We're also at the FDA this year, which I think
it would be beneficial for the FDA to see these kids. We're going
to Children's of Alabama, Children's of Texas, and we're going to
Quinnipiac, so we're pretty excited.

The only limitation that we have here right now is it's
certainly not demand. It is supply. We could have been at many more
venues, we just do not have the supply right now. We're about up to
100 portraits, so after Rare Disease Day winds down, we do have
more artists. We do have more patients that want to participate, so
we're going to start matching the artists and start a new process
of creating artwork.

Right now we are representing about 100 different rare diseases.
The idea is that eventually, we get to 7,000 portraits and there's
a face for every disease. That's what we hope to do. It's really,
really ambitious but I can't believe how far that we've come in the
past two years.

It's interesting. It's an interesting process, but right now
we're also trying to make it go global, so we're working with
organizations around the world because it's a global issue, and the
art exhibit has been an extraordinary and successful way to engage
people that otherwise would not have been engaged. Not just the
medical community. I've had people contact me that want to
volunteer for RDUF that have nothing to do with rare diseases. They
just happen to see the CBS piece and now they can connect to
us.

It's hard to connect to rare diseases because even when you just
hear rare diseases, you think uncommon. The general public doesn't
become engaged. They don't know the story of rare diseases. They
don't know how long it takes. They don't know we don't have
treatments. They don't know that there are children that are
suffering and dying, and they don't know how many millions of
people are affected.

Personally, I've recently become very, very interested in some
research that's come out for my daughters' disease, which is
fantastic because there really hasn't been a lot going on. It means
everything. This is what we need, but we're starting at the bottom.
We need awareness first. We need people to know we exist before
they decide let's start researching this.

The interest in rare disease treatments is not old. Even though
the Orphan Drug Act has been around for 35 years, the interest in
rare diseases, and the amount of treatments that have come out
about rare diseases is relatively new and I think there's a lot of
things to do with that. I mean, 35 years ago we couldn't map the
human genome so we didn't know. There wasn't a lot of research
going on for these genetic diseases, especially these rare genetic
diseases, so now we get the map of the human genome, and then it's
$100,000 to get somebody's sequence. Well now it's a lot
cheaper.

About the Podcast

A new podcast series devoted to raising global pulmonary hypertension awareness with dynamic stories from PH patients, caregivers and medical professionals from around the world. New Episodes every Monday & Thursday.
Through this series of impactful, insightful and, most importantly, hopeful stories from members of the global pulmonary hypertension community, we hope to further the global #phaware conversation as well as to capture, engage and enable misdiagnosed and undiagnosed PH patients because early diagnosis and treatment can mean the difference between life and death.
Topics range from the importance of early diagnosis and global PH awareness, to the impact of clinical trials to how patient support and advocacy are paramount to battling this disease.
Learn more about PH at www.phaware.global